Autosomal Domit Robinow Syndrome 2
Disease ID: disease_node_17029
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:616331, ORDO:3107 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060254 |
| Data Source | DOID |
| Synonyms | DRS2 |
| Doid Label | autosomal domit Robinow syndrome 2 |
| Doid Description | A Robinow syndrome characterized by autosomal domit inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17029 |
| Doid Id | DOID_0060765 |
| Label | Autosomal Domit Robinow Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)